Frameshift mutation of LAMP2:c.667delT in a 17-year-old male with hypertrophic cardiomyopathy and dyslexia: a novel pathogenic variant for Danon disease. Singapore Medical Journal. ISSN 2737-5935 (2024)
Related URLs:
Abstract
Danon disease is a rare X-linked dominant disorder caused by pathogenic mutations in the lysosomal-associated membrane protein 2 (LAMP2) gene.[1] Clinical features include hypertrophic cardiomyopathy (HCM), skeletal myopathy, intellectual disability and manifestations of retinal and hepatic systems.[2,3,4] Males are usually more severely affected compared to females.[5] We report a case of Danon disease caused by a mutation that has not been reported in the current literature.
| Item Type: | Article |
|---|---|
| Keywords: | Danon Disease, LAMP2 Gene Mutation, X-linked Dominant Disorder, Hypertrophic Cardiomyopathy (HCM), Genetic Cardiomyopathy, Left Bundle Branch Block (LBBB), Metabolic Cardiomyopathy, Novel Mutation, Genetic Testing and Diagnosis |
| Taxonomy: | By Niche > Genome > Human Genome Research |
| Local Content Hub: | Niche > Genome |
| Depositing User: | Hazrul Amir Tomyang (Puncak Alam) |
| Date Deposited: | 28 Mar 2025 04:19 |
| Last Modified: | 28 Mar 2025 04:19 |
| Related URLs: |
Actions (login required)
 |
View Item |
